Variant report

Variant	nsv586222
Chromosome Location	chr20:52473679-52506380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1012)
CpG islands
(count:305)
Chromatin interactive
region (count:274)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:52480376-52481195	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:52495155-52495568	HepG2	liver:	n/a	chr20:52495325-52495341 chr20:52495326-52495342
3	ARID3A	chr20:52487263-52487350	K562	blood:	n/a	n/a
4	ARID3A	chr20:52489013-52489352	K562	blood:	n/a	n/a
5	ARID3A	chr20:52481623-52482109	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:52486307-52486677	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:52482763-52483907	HepG2	liver:	n/a	n/a
8	ATF1	chr20:52492139-52492368	K562	blood:	n/a	n/a
9	ATF2	chr20:52485991-52486725	GM12878	blood:	n/a	n/a
10	ATF2	chr20:52489221-52489699	GM12878	blood:	n/a	n/a
11	ATF2	chr20:52485951-52486774	GM12878	blood:	n/a	n/a
12	ATF2	chr20:52489029-52489786	GM12878	blood:	n/a	n/a
13	ATF3	chr20:52492119-52492364	K562	blood:	n/a	n/a
14	ATF3	chr20:52492107-52492469	K562	blood:	n/a	n/a
15	BACH1	chr20:52501750-52501761	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr20:52486101-52486576	GM12878	blood:	n/a	n/a
17	BATF	chr20:52486055-52486655	GM12878	blood:	n/a	n/a
18	BCL11A	chr20:52486267-52486603	GM12878	blood:	n/a	n/a
19	BCL3	chr20:52486033-52486871	A549	lung:	n/a	n/a
20	BCL3	chr20:52485902-52486618	GM12878	blood:	n/a	n/a
21	BCLAF1	chr20:52483471-52484139	GM12878	blood:	n/a	n/a
22	BCLAF1	chr20:52489010-52489825	GM12878	blood:	n/a	n/a
23	BCLAF1	chr20:52485972-52486705	GM12878	blood:	n/a	n/a
24	BCLAF1	chr20:52486018-52486664	GM12878	blood:	n/a	n/a
25	BCLAF1	chr20:52483242-52484159	GM12878	blood:	n/a	n/a
26	BHLHE40	chr20:52486167-52486693	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:52486973-52487165	K562	blood:	n/a	n/a
28	BHLHE40	chr20:52486357-52486651	HepG2	liver:	n/a	n/a
29	BHLHE40	chr20:52476224-52476424	K562	blood:	n/a	n/a
30	BHLHE40	chr20:52488865-52490164	GM12878	blood:	n/a	n/a
31	BHLHE40	chr20:52483752-52483799	K562	blood:	n/a	n/a
32	BHLHE40	chr20:52488138-52488347	K562	blood:	n/a	n/a
33	BRCA1	chr20:52486274-52486593	HepG2	liver:	n/a	n/a
34	BRCA1	chr20:52483174-52483543	GM12878	blood:	n/a	n/a
35	BRCA1	chr20:52482834-52482937	HepG2	liver:	n/a	n/a
36	CBX3	chr20:52492048-52492374	K562	blood:	n/a	n/a
37	CBX3	chr20:52486263-52486696	K562	blood:	n/a	n/a
38	CBX3	chr20:52492029-52492397	K562	blood:	n/a	n/a
39	CEBPB	chr20:52486047-52486760	GM12878	blood:	n/a	n/a
40	CEBPB	chr20:52492054-52492415	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr20:52483320-52483638	K562	blood:	n/a	chr20:52483458-52483469 chr20:52483456-52483467
42	CEBPB	chr20:52480455-52480953	HepG2	liver:	n/a	chr20:52480582-52480593
43	CEBPB	chr20:52483371-52483604	HepG2	liver:	n/a	chr20:52483458-52483469 chr20:52483456-52483467
44	CEBPB	chr20:52492131-52492346	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr20:52492044-52492524	A549	lung:	n/a	n/a
46	CEBPB	chr20:52480471-52481039	IMR90	lung:	n/a	chr20:52480582-52480593
47	CEBPB	chr20:52485945-52486447	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr20:52483336-52483606	Hela-S3	cervix:	n/a	chr20:52483458-52483469 chr20:52483456-52483467
49	CEBPB	chr20:52486043-52486444	K562	blood:	n/a	n/a
50	CEBPB	chr20:52492057-52492467	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:52493220-52493270	SK-N-SH	brain:	n/a
2	chr20:52492209-52492259	IMR90	lung:	fetal
3	chr20:52492209-52492259	HNPCEpiC	eye:	n/a
4	chr20:52493220-52493270	GM19239	blood:	n/a
5	chr20:52492248-52492298	PANC-1	pancreas:	n/a
6	chr20:52492248-52492298	A549	lung:	n/a
7	chr20:52492248-52492298	ovcar-3	ovarian:	n/a
8	chr20:52492209-52492259	HL-60	blood:	n/a
9	chr20:52492248-52492298	GM06990	blood:	n/a
10	chr20:52493596-52493646	GM12878	blood:	n/a
11	chr20:52492209-52492259	H1-hESC	embryonic stem cell:	embryo
12	chr20:52492248-52492298	AG04450	lung:	fetal
13	chr20:52493220-52493270	AG09319	gingival:	n/a
14	chr20:52493596-52493646	HRPEpiC	eye:	n/a
15	chr20:52493238-52493288	A549	lung:	n/a
16	chr20:52493220-52493270	ovcar-3	ovarian:	n/a
17	chr20:52493238-52493288	GM12891	blood:	n/a
18	chr20:52493220-52493270	PFSK-1	brain:	n/a
19	chr20:52492209-52492259	ECC-1	luminal epithelium:	n/a
20	chr20:52493596-52493646	HCT-116	colon:	n/a
21	chr20:52492209-52492259	T-47D	breast:	n/a
22	chr20:52493220-52493270	HNPCEpiC	eye:	n/a
23	chr20:52493238-52493288	T-47D	breast:	n/a
24	chr20:52492209-52492259	HRCEpiC	kidney:	n/a
25	chr20:52493238-52493288	RPTEC	kidney:	n/a
26	chr20:52493238-52493288	CMK	blood:	n/a
27	chr20:52493596-52493646	Hepatocyte	liver:	n/a
28	chr20:52493220-52493270	GM06990	blood:	n/a
29	chr20:52493238-52493288	AG04450	lung:	fetal
30	chr20:52492248-52492298	MCF10A-Er-Src	breast:	n/a
31	chr20:52493238-52493288	HAEpiC	amniotic membrane:	n/a
32	chr20:52493238-52493288	GM12892	blood:	n/a
33	chr20:52492248-52492298	BJ	skin:	n/a
34	chr20:52493220-52493270	PrEC	prostate:	n/a
35	chr20:52492209-52492259	NB4	blood:	n/a
36	chr20:52492209-52492259	HEK293	kidney:	embryo
37	chr20:52492248-52492298	NT2-D1	testis:	n/a
38	chr20:52492248-52492298	HMEC	breast:	n/a
39	chr20:52493596-52493646	SK-N-MC	brain:	n/a
40	chr20:52493220-52493270	Hepatocyte	liver:	n/a
41	chr20:52493220-52493270	RPTEC	kidney:	n/a
42	chr20:52493238-52493288	BE2_C	brain:	n/a
43	chr20:52493238-52493288	NHBE	bronchial:	n/a
44	chr20:52493238-52493288	HCF	heart:	n/a
45	chr20:52492248-52492298	MCF-7	breast:	n/a
46	chr20:52492209-52492259	AG09319	gingival:	n/a
47	chr20:52493596-52493646	AG09319	gingival:	n/a
48	chr20:52493238-52493288	HRPEpiC	eye:	n/a
49	chr20:52492248-52492298	SAEC	small airway:	n/a
50	chr20:52492209-52492259	AG09309	skin:	n/a

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr20:49302292..49303982-chr20:52481386..52483714,2	MCF-7	breast:
2	chr20:52493164..52496400-chr20:52505534..52507273,4	K562	blood:
3	chr20:52370915..52371906-chr20:52486506..52487009,2	MCF-7	breast:
4	chr17:58601420..58603983-chr20:52490138..52492332,2	MCF-7	breast:
5	chr20:52195366..52195877-chr20:52484212..52484846,2	MCF-7	breast:
6	chr20:52484120..52485037-chr3:64016477..64017091,2	MCF-7	breast:
7	chr20:52502125..52504163-chr20:52505753..52508684,2	K562	blood:
8	chr20:52484288..52486178-chr4:88957310..88959480,2	MCF-7	breast:
9	chr20:52425734..52426665-chr20:52488330..52488904,2	MCF-7	breast:
10	chr20:52194164..52194825-chr20:52486237..52486842,2	MCF-7	breast:
11	chr20:52482155..52484312-chr9:130323428..130324987,2	MCF-7	breast:
12	chr20:46353803..46354770-chr20:52486024..52487008,3	MCF-7	breast:
13	chr17:57919387..57922338-chr20:52486678..52488392,3	MCF-7	breast:
14	chr20:52210074..52211092-chr20:52482654..52483935,3	MCF-7	breast:
15	chr20:52251331..52252269-chr20:52486087..52486825,3	MCF-7	breast:
16	chr20:52499964..52500615-chr20:52522525..52523240,2	MCF-7	breast:
17	chr20:52355095..52355945-chr20:52486074..52486806,2	MCF-7	breast:
18	chr20:52278383..52278965-chr20:52482508..52483417,2	MCF-7	breast:
19	chr20:52483421..52485868-chr20:55831559..55834264,2	MCF-7	breast:
20	chr20:52482916..52483597-chr20:52531915..52532688,3	MCF-7	breast:
21	chr20:52482153..52483628-chr20:52522532..52523384,3	MCF-7	breast:
22	chr20:52224263..52224919-chr20:52486339..52487302,2	MCF-7	breast:
23	chr20:52402271..52403940-chr20:52480276..52481396,7	MCF-7	breast:
24	chr20:52401888..52404343-chr20:52481570..52483956,10	MCF-7	breast:
25	chr12:66506885..66508576-chr20:52484476..52487409,2	MCF-7	breast:
26	chr20:49346871..49348978-chr20:52488484..52490974,2	MCF-7	breast:
27	chr20:52486286..52488897-chr20:55826084..55828899,2	MCF-7	breast:
28	chr20:52475956..52476472-chr20:55844897..55845445,2	MCF-7	breast:
29	chr20:52482302..52483839-chr20:52727165..52730009,2	MCF-7	breast:
30	chr17:57913854..57916854-chr20:52481054..52484411,4	MCF-7	breast:
31	chr1:144930770..144933506-chr20:52490207..52493077,2	MCF-7	breast:
32	chr20:52372399..52373184-chr20:52486045..52487009,4	MCF-7	breast:
33	chr2:70313733..70315414-chr20:52481217..52483534,2	MCF-7	breast:
34	chr20:52490662..52493657-chr3:155587949..155590436,2	MCF-7	breast:
35	chr20:52422157..52422923-chr20:52486273..52486879,2	MCF-7	breast:
36	chr17:56707630..56709159-chr20:52486995..52489742,2	MCF-7	breast:
37	chr17:59471125..59471637-chr20:52485944..52486582,2	MCF-7	breast:
38	chr17:59652154..59652890-chr20:52480568..52481434,2	MCF-7	breast:
39	chr17:59489090..59493559-chr20:52477798..52481685,3	MCF-7	breast:
40	chr17:57923074..57925214-chr20:52484890..52487156,2	MCF-7	breast:
41	chr20:52476198..52478320-chr20:52482797..52484408,2	K562	blood:
42	chr20:52195131..52196364-chr20:52481323..52482833,5	MCF-7	breast:
43	chr20:49352972..49355682-chr20:52480138..52482022,2	MCF-7	breast:
44	chr20:52482856..52483578-chr20:52531496..52532508,5	MCF-7	breast:
45	chr17:79480745..79482983-chr20:52482594..52484140,2	MCF-7	breast:
46	chr20:52493164..52496400-chr20:52505534..52507273,4	K562	blood:
47	chr20:52481752..52485242-chr20:55845808..55850200,8	MCF-7	breast:
48	chr20:52502125..52504611-chr20:52505753..52508666,2	K562	blood:
49	chr20:52229047..52230576-chr20:52485932..52487448,15	MCF-7	breast:
50	chr20:52485654..52487265-chr20:52530091..52533503,52	MCF-7	breast:

No data

Variant related genes	Relation type
SUMO1P1	TF binding region
SUMO1P1	CpG island
ENSG00000184640	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000197555	chromatin interactions
ENSG00000184863	chromatin interactions
ENSG00000263826	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000135452	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000160190	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000184924	chromatin interactions
ENSG00000169564	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000046647	chromatin interactions
ENSG00000108424	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000229848	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000226124	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000101115	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000126756	chromatin interactions
ENSG00000241721	chromatin interactions
ENSG00000106069	chromatin interactions
ENSG00000235448	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000103227	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000124766	chromatin interactions
ENSG00000233895	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000013288	chromatin interactions
ENSG00000260793	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000225563	chromatin interactions
ENSG00000114850	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000054793	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000127124	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000163655	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000133805	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000267064	chromatin interactions
ENSG00000108312	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000216895	chromatin interactions
ENSG00000268628	chromatin interactions
ENSG00000259146	chromatin interactions

Extended variants
information (count: 1652 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs873340	chr20:52473679-52473680	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141241270	chr20:52473693-52473694	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs554189473	chr20:52473694-52473695	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs189973085	chr20:52473704-52473705	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs182477727	chr20:52473712-52473713	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188380235	chr20:52473713-52473714	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs559009275	chr20:52473822-52473823	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs150775629	chr20:52473845-52473846	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs577273792	chr20:52473937-52473938	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs57928733	chr20:52473942-52473943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs191572515	chr20:52473955-52473956	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550724535	chr20:52473956-52473957	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs183708908	chr20:52473998-52473999	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139178255	chr20:52474044-52474045	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs546959712	chr20:52474070-52474071	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs16998483	chr20:52474126-52474127	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs188587803	chr20:52474140-52474141	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552719417	chr20:52474212-52474213	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs13040127	chr20:52474228-52474229	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112941419	chr20:52474313-52474314	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs117779283	chr20:52474330-52474331	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs537246374	chr20:52474331-52474332	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs6022802	chr20:52474363-52474364	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77575424	chr20:52474379-52474380	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs193274957	chr20:52474400-52474401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs183652847	chr20:52474405-52474406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs76521353	chr20:52474462-52474463	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544647590	chr20:52474477-52474478	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544072132	chr20:52474491-52474492	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564650095	chr20:52474510-52474511	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376275839	chr20:52474512-52474513	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs549270846	chr20:52474563-52474564	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543892421	chr20:52474633-52474634	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186723775	chr20:52474665-52474666	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569088579	chr20:52474683-52474684	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547292297	chr20:52474715-52474716	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560588718	chr20:52474725-52474726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532546341	chr20:52474751-52474752	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs17534984	chr20:52474778-52474779	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569272645	chr20:52474792-52474793	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143870757	chr20:52474821-52474822	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6022803	chr20:52474850-52474851	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6091763	chr20:52474947-52474948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567482867	chr20:52474998-52474999	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561097437	chr20:52475003-52475004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191530063	chr20:52475035-52475036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553249621	chr20:52475038-52475039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573016415	chr20:52475053-52475054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540493919	chr20:52475063-52475064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34215565	chr20:52475079-52475080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
2	chr20:52456600-52476200	Weak transcription	Gastric	stomach
3	chr20:52463000-52474000	Weak transcription	A549	lung
4	chr20:52464600-52474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:52468800-52474400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:52468800-52474400	Weak transcription	Colonic Mucosa	Colon
7	chr20:52468800-52476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:52468800-52481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:52469000-52474200	Weak transcription	K562	blood
10	chr20:52469000-52474200	Weak transcription	NHEK	skin
11	chr20:52470000-52474200	Weak transcription	GM12878-XiMat	blood
12	chr20:52471600-52474800	Enhancers	Fetal Thymus	thymus
13	chr20:52471600-52475000	Enhancers	Primary T cells from cord blood	blood
14	chr20:52472000-52474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:52472000-52474800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr20:52472200-52474400	Enhancers	Primary hematopoietic stem cells	blood
17	chr20:52472200-52474800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr20:52472200-52474800	Enhancers	Thymus	Thymus
19	chr20:52472200-52476600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr20:52472400-52474200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:52472400-52474400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr20:52472400-52480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:52472600-52474000	Weak transcription	Stomach Mucosa	stomach
24	chr20:52472600-52474400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr20:52472600-52474600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr20:52473000-52474000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr20:52473000-52474000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr20:52473000-52474000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr20:52473000-52474200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:52473000-52474200	Weak transcription	Dnd41	blood
31	chr20:52473000-52474400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr20:52473000-52474400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr20:52473000-52474400	Weak transcription	Fetal Muscle Leg	muscle
34	chr20:52473000-52474400	Weak transcription	Fetal Stomach	stomach
35	chr20:52473200-52474200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr20:52473200-52474200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr20:52473200-52474200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr20:52473200-52474400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr20:52473200-52480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr20:52473400-52474000	Weak transcription	Fetal Intestine Large	intestine
41	chr20:52473400-52474200	Enhancers	HepG2	liver
42	chr20:52473400-52476200	Weak transcription	Placenta	Placenta
43	chr20:52473400-52476200	Weak transcription	Spleen	Spleen
44	chr20:52473600-52474000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr20:52473600-52474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr20:52473600-52475000	Enhancers	Fetal Lung	lung
47	chr20:52473600-52476400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr20:52474000-52474600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr20:52474000-52474600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr20:52474000-52474800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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